Biallelic Mutations in Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent “leak” channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease.

Source: The American Journal of Human Genetics - December 17, 2015 Category: Genetics & Stem Cells Authors: Asbjørg Stray-Pedersen, Jan-Maarten Cobben, Trine E. Prescott, Sora Lee, Chunlei Cang, Kimberly Aranda, Sohnee Ahmed, Marielle Alders, Thorsten Gerstner, Kathinka Aslaksen, Martine Tétreault, Wen Qin, Taila Hartley, Shalini N. Jhangiani, Donna M. Muz Tags: Report Source Type: research